NM_000059.4(BRCA2):c.4322A>C (p.Glu1441Ala) AND Hereditary breast ovarian cancer syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Mar 13, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001070822.7
Allele description [Variation Report for NM_000059.4(BRCA2):c.4322A>C (p.Glu1441Ala)]
NM_000059.4(BRCA2):c.4322A>C (p.Glu1441Ala)
Condition(s)
- Name:
- Hereditary breast ovarian cancer syndrome
- Synonyms:
- Hereditary breast and ovarian cancer syndrome; Hereditary breast and ovarian cancer; Hereditary breast and ovarian cancer syndrome (HBOC); See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0003582; MeSH: D061325; MedGen: C0677776; Orphanet: 145
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membrane-associated phosphatidylinositol transfer protein 2 isoform 4 [Homo sapi...
membrane-associated phosphatidylinositol transfer protein 2 isoform 4 [Homo sapiens]gi|1862717719|ref|NP_001371590.1|Protein
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See more...Assertion and evidence details
Last Updated: Sep 1, 2024